Identity
HGNC
LOCATION
7q21.2
LOCUSID
ALIAS
HMLR1,PBD1A,PBD1B,ZWS,ZWS1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 5189
MIM: 602136
HGNC: 8850
Ensembl: ENSG00000127980
Variants:
dbSNP: 5189
ClinVar: 5189
TCGA: ENSG00000127980
COSMIC: PEX1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000127980 | ENST00000248633 | O43933 |
| ENSG00000127980 | ENST00000422866 | H7BZH3 |
| ENSG00000127980 | ENST00000428214 | A0A0C4DG33 |
| ENSG00000127980 | ENST00000438045 | O43933 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Peroxisome | KEGG | ko04146 |
| Peroxisome | KEGG | hsa04146 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37092661 | 2024 | Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants. | 0 |
| 37092661 | 2024 | Ophthalmic Manifestations of Heimler Syndrome in Two Siblings With PEX1 Variants. | 0 |
| 36534601 | 2023 | Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis. | 2 |
| 37385119 | 2023 | Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics. | 0 |
| 36534601 | 2023 | Comparison of human PEX knockout cell lines suggests a dual role of PEX1 in peroxisome biogenesis. | 2 |
| 37385119 | 2023 | Novel PEX1 mutations in fibroblasts from children with Zellweger spectrum disorders exhibit temperature sensitive characteristics. | 0 |
| 33545634 | 2021 | Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression. | 7 |
| 33955814 | 2021 | Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings. | 0 |
| 33545634 | 2021 | Depletion of HNRNPA1 induces peroxisomal autophagy by regulating PEX1 expression. | 7 |
| 33955814 | 2021 | Two siblings with Heimler syndrome caused by PEX1 variants: follow-up of ophthalmologic findings. | 0 |
| 32866347 | 2020 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | 9 |
| 32866347 | 2020 | The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature. | 9 |
| 31374812 | 2019 | Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. | 7 |
| 31831025 | 2019 | Expanding the clinical and genetic spectrum of Heimler syndrome. | 8 |
| 31374812 | 2019 | Structural Mapping of Missense Mutations in the Pex1/Pex6 Complex. | 7 |
Citation
Dessen P
PEX1 (peroxisomal biogenesis factor 1)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71831/pex1-(peroxisomal-biogenesis-factor-1)
